Canonical Allele Identifier: CA393621538
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80177543G>A , CM000677.2:g.80177543G>A GRCh38
NC_000015.9:g.80469885G>A , CM000677.1:g.80469885G>A GRCh37
NC_000015.8:g.78256940G>A NCBI36
NG_012833.1:g.29545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1009G>A
ENST00000561421.6:c.920G>A MANE Select ENSP00000453347.2:p.Gly307Glu
ENST00000646551.1:n.2534G>A
ENST00000261755.9:c.920G>A ENSP00000261755.5:p.Gly307Glu
ENST00000407106.5:c.920G>A ENSP00000385080.1:p.Gly307Glu
ENST00000539156.5:c.710G>A ENSP00000454271.1:p.Gly237Glu
ENST00000559217.1:n.137G>A
ENST00000561353.2:c.18G>A
ENST00000561421.5:c.920G>A ENSP00000453347.1:p.Gly307Glu
NM_000137.2:c.920G>A NP_000128.1:p.Gly307Glu
XM_024449872.1:c.920G>A XP_024305640.1:p.Gly307Glu
NM_000137.4:c.920G>A MANE Select NP_000128.1:p.Gly307Glu
NM_001374377.1:c.920G>A NP_001361306.1:p.Gly307Glu
NM_001374380.1:c.920G>A NP_001361309.1:p.Gly307Glu